Variant report

Variant	rs2294481
Chromosome Location	chr6:27583928-27583929
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27583659..27587371-chr6:27597260..27601233,4	K562	blood:
2	chr6:27569083..27571892-chr6:27582628..27586229,3	K562	blood:
3	chr6:27582926..27585159-chr6:27598458..27601233,2	K562	blood:
4	chr6:27583544..27586615-chr6:27617809..27619941,3	K562	blood:
5	chr6:27572695..27575241-chr6:27583548..27587742,4	K562	blood:
6	chr6:27583544..27586200-chr6:27617809..27619941,2	K562	blood:

Variant related genes	Relation type
ENSG00000238648	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1022486	0.93[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1033451	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10807026	0.82[ASN][1000 genomes]
rs10807029	0.97[ASN][1000 genomes]
rs10946935	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs10946938	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs10946940	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2056924	0.91[JPT][hapmap]
rs2294480	0.80[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4272217	0.81[ASN][1000 genomes]
rs4713112	0.88[CHB][hapmap];0.95[JPT][hapmap]
rs4713113	0.83[ASN][1000 genomes]
rs4713120	0.86[JPT][hapmap]
rs62401383	0.87[ASN][1000 genomes]
rs6456799	0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6915266	0.87[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs6915987	0.95[JPT][hapmap]
rs6916878	0.88[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap]
rs6918038	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6921256	0.81[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs6934437	0.88[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap]
rs6934794	0.93[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap]
rs7764081	0.94[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap]
rs7769662	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7774939	0.83[ASN][1000 genomes]
rs7775817	0.84[ASN][1000 genomes]
rs9295747	0.86[JPT][hapmap]
rs9348772	0.91[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs9357042	0.99[ASN][1000 genomes]
rs9380007	0.91[JPT][hapmap]
rs9393830	0.81[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs9393831	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv830617	chr6:27424769-27598595	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1030256	chr6:27477726-27605842	Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv1025862	chr6:27480227-27605321	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv1017347	chr6:27483816-27605842	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv1025572	chr6:27487852-27604454	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv538167	chr6:27487852-27604454	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv883509	chr6:27492906-27586181	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1018107	chr6:27503525-27596736	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv538168	chr6:27503525-27596736	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
12	nsv1023673	chr6:27570731-27688782	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27582400-27584400	Weak transcription	HMEC	breast
2	chr6:27583600-27585400	Flanking Active TSS	K562	blood

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